Rare Disease Library

Congenital enteropathy involving intestinal mucosa development

Congenital enterovirus infection

Antenatal enterovirus infection · Mother-to-child transmission of enterovirus infection

Congenital Epstein-Barr virus infection

Antenatal Epstein-Barr virus infection · Mother-to-child transmission of Epstein-Barr virus infection

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

Congenital erosive and vesicular dermatosis

Congenital erosive and vesicular dermatosis with reticulated supple scarring · CEVD

Congenital erythropoietic porphyria

CEP · Günther disease

Congenital esophageal diverticulum

Congenital esophageal pouch

Congenital esophageal stenosis

CES · Congenital oesophageal stenosis

Congenital eyelid retraction

Congenital factor II deficiency

Dysprothrombinemia · Hypoprothrombinemia

Congenital factor V deficiency

Owren disease · Parahemophilia

Congenital factor VII deficiency

Congenital proconvertin deficiency · Hypoproconvertinemia

Congenital factor X deficiency

Congenital Stuart factor deficiency · Stuart-Prower factor deficiency

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

Congenital factor XII deficiency

Congenital Hageman factor deficiency

Congenital factor XIII deficiency

Fibrin-stabilizing factor deficiency

Congenital fiber-type disproportion myopathy

CFTDM

Congenital fibrinogen deficiency

Congenital fibrosis of extraocular muscles

FEOM

Congenital functional phagocyte defect

Congenital functional defect of phagocyte · Constitutional functional phagocyte defect

Congenital generalized lipodystrophy type 4

GCL4 · Berardinelli-Seip syndrome type 4, BSCL type 4

Congenital generalized hypercontractile muscle stiffness syndrome

Congenital generalized hypertrichosis, Ambras type

Ambras syndrome

Congenital generalized lipodystrophy

BSCL · Berardinelli-Seip syndrome

Congenital genu flexum

Congenital genu recurvatum

Congenital Gerbode defect

Left ventricular-to-right atrial communication

Congenital glaucoma

Buphthalmia · Buphthalmos

Congenital glucokinase-related hyperinsulinism

Glucokinase-related hyperinsulinemic hypoglycemia

Congenital heart block

Congenital atrioventricular block

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

Congenital heart defect-round face-developmental delay syndrome

Sonoda syndrome

Congenital hemangioma

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

Congenital hereditary facial paralysis-variable hearing loss syndrome

Congenital hereditary facial paralysis-variable deafness syndrome · Congenital hereditary facial palsy with variable deafness

Congenital herpes simplex virus infection

Mother-to-child transmission of herpes simplex virus infection · Antenatal herpes simplex virus infection

Congenital high airway obstruction syndrome

CHAOS

Congenital high-molecular-weight kininogen deficiency

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Congenital hydrocephalus

Congenital hyperinsulinism due to HNF4A deficiency

Hyperinsulinemic hypoglycemia due to HNF4A deficiency

Congenital hypogonadotropic hypogonadism

Congenital hypothalamic hamartoma syndrome

CHHS

Congenital hypothyroidism

Congenital hypothyroidism due to developmental anomaly

Primary congenital hypothyroidism due to developmental anomaly

Congenital hypothyroidism due to maternal intake of antithyroid drugs

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies